#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														374666							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		6	9	0	0	0	1	0	6	9				
DNAH1	25981	broad.mit.edu	37	3	52406913	52406913	+	Splice_Site	SNP	C	C	T			TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr3:52406913C>T	ENST00000420323.2	+	44	7090	c.6829C>T	c.(6829-6831)Cgg>Tgg	p.R2277W		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2277	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCCCTCAGGCGGAAGGGTGT	0.617																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.e44-1		dynein, axonemal, heavy chain 1							66.0	70.0	69.0					3																	52406913		1966	4136	6102	SO:0001630	splice_region_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52406913C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.6828-1C>T	3.37:g.52406913C>T							p.R2277_splice	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	44	7090	+			2277			AAA 3 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Splice_Site	SNP	ENST00000420323.2	37	c.6827_splice	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030110	0.75504	.	.	ENSG00000114841	ENST00000420323	T	0.44482	0.92	5.51	4.62	0.57501	.	1.561230	0.04370	N	0.358873	T	0.77011	0.4068	H	0.97962	4.115	0.58432	D	0.999997	D	0.76494	0.999	P	0.60415	0.874	T	0.66356	-0.5944	10	0.87932	D	0	.	10.4011	0.44231	0.2652:0.6054:0.1293:0.0	.	2277	C9JXH6	.	W	2277	ENSP00000401514:R2277W	ENSP00000401514:R2277W	R	+	1	2	DNAH1	52381953	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.396000	0.34531	1.304000	0.44892	0.655000	0.94253	CGG		0.617	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	Missense_Mutation	21	57	0	0	0	1	0	21	57				
OR8H3	390152	broad.mit.edu	37	11	55890333	55890333	+	Missense_Mutation	SNP	C	C	T			TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr11:55890333C>T	ENST00000313472.3	+	1	485	c.485C>T	c.(484-486)tCc>tTc	p.S162F		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S162Y(1)|p.S162F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					AATGTGGTTTCCATGAGCAGA	0.438																																						ENST00000313472.3																			2	Substitution - Missense(2)	p.S162Y(1)|p.S162F(1)	lung(1)|skin(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(484-486)tCc>tTc		olfactory receptor, family 8, subfamily H, member 3							238.0	211.0	221.0					11																	55890333		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890333C>T	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.485C>T	11.37:g.55890333C>T	ENSP00000323928:p.Ser162Phe						p.S162F	NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN			1	485	+	Esophageal squamous(21;0.00693)		162					Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.485C>T	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.560318	0.00136	.	.	ENSG00000181761	ENST00000313472	T	0.00054	8.8	3.62	-7.21	0.01490	GPCR, rhodopsin-like superfamily (1);	0.596206	0.16347	N	0.218385	T	0.00039	0.0001	N	0.05487	-0.04	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.39583	-0.9607	10	0.08179	T	0.78	.	1.7399	0.02950	0.1303:0.2854:0.1446:0.4398	.	162	Q8N146	OR8H3_HUMAN	F	162	ENSP00000323928:S162F	ENSP00000323928:S162F	S	+	2	0	OR8H3	55646909	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.028000	0.12350	-0.801000	0.04427	-1.402000	0.01139	TCC		0.438	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		41	100	0	0	0	1	0	41	100				
TRAFD1	10906	broad.mit.edu	37	12	112578648	112578648	+	Missense_Mutation	SNP	C	C	T			TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr12:112578648C>T	ENST00000257604.5	+	5	880	c.263C>T	c.(262-264)gCt>gTt	p.A88V	TRAFD1_ENST00000412615.2_Missense_Mutation_p.A88V	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	88					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						TTGCGGCTTGCTGTCTGCCAG	0.468																																						ENST00000257604.5																			0				kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.(262-264)gCt>gTt		TRAF-type zinc finger domain containing 1							70.0	66.0	68.0					12																	112578648		2203	4300	6503	SO:0001583	missense	10906				negative regulation of innate immune response	intracellular	protein binding|zinc ion binding	g.chr12:112578648C>T	AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.263C>T	12.37:g.112578648C>T	ENSP00000257604:p.Ala88Val					TRAFD1_ENST00000412615.2_Missense_Mutation_p.A88V	p.A88V	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN			5	880	+			88					A8K5L6|B4DI89	Missense_Mutation	SNP	ENST00000257604.5	37	c.263C>T	CCDS9160.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565536	0.27915	.	.	ENSG00000135148	ENST00000412615;ENST00000549358;ENST00000257604;ENST00000552896	T;T;T;T	0.03212	4.01;4.01;4.01;4.01	5.7	4.81	0.61882	.	0.249292	0.42053	D	0.000772	T	0.01870	0.0059	N	0.03281	-0.365	0.41055	D	0.985335	P;P	0.40619	0.724;0.584	B;B	0.43155	0.41;0.262	T	0.53961	-0.8364	10	0.02654	T	1	-16.7071	8.3614	0.32361	0.0:0.7809:0.0:0.2191	.	88;88	F8VNX8;O14545	.;TRAD1_HUMAN	V	88	ENSP00000396526:A88V;ENSP00000449319:A88V;ENSP00000257604:A88V;ENSP00000450357:A88V	ENSP00000257604:A88V	A	+	2	0	TRAFD1	111063031	0.856000	0.29760	1.000000	0.80357	0.993000	0.82548	1.343000	0.33930	2.695000	0.91970	0.563000	0.77884	GCT		0.468	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	NM_006700		4	83	0	0	0	1	0	4	83				
KMT2C	58508	broad.mit.edu	37	7	151945602	151945602	+	Silent	SNP	G	G	A	rs202125566		TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr7:151945602G>A	ENST00000262189.6	-	14	2135	c.1917C>T	c.(1915-1917)ggC>ggT	p.G639G	KMT2C_ENST00000355193.2_Silent_p.G639G	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	639					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTTGATCTTCGCCACAAATAT	0.373																																						ENST00000355193.2																			0											c.(1915-1917)ggC>ggT		lysine (K)-specific methyltransferase 2C							61.0	58.0	59.0					7																	151945602		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151945602G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1917C>T	7.37:g.151945602G>A						KMT2C_ENST00000262189.6_Silent_p.G639G	p.G639G							14	2135	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.1917C>T	CCDS5931.1																																																																																				0.373	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			4	68	0	0	0	1	0	4	68				
MDGA1	266727	broad.mit.edu	37	6	37622620	37622620	+	Missense_Mutation	SNP	C	C	T			TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr6:37622620C>T	ENST00000434837.3	-	5	1846	c.668G>A	c.(667-669)gGc>gAc	p.G223D	MDGA1_ENST00000297153.7_Missense_Mutation_p.G223D|MDGA1_ENST00000505425.1_Missense_Mutation_p.G223D	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	223	Ig-like 2.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)		p.G223D(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GTCTGGGATGCCGCACACGTT	0.597																																						ENST00000434837.2																			1	Substitution - Missense(1)	p.G223D(1)	lung(1)	central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						c.(667-669)gGc>gAc		MAM domain containing glycosylphosphatidylinositol anchor 1							188.0	200.0	196.0					6																	37622620		2180	4263	6443	SO:0001583	missense	266727				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		g.chr6:37622620C>T	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.668G>A	6.37:g.37622620C>T	ENSP00000402584:p.Gly223Asp					MDGA1_ENST00000505425.1_Missense_Mutation_p.G223D|MDGA1_ENST00000297153.7_Missense_Mutation_p.G223D	p.G223D	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN			5	1846	-			223			Ig-like 2.		A6NHG0|Q8NBE3	Missense_Mutation	SNP	ENST00000434837.3	37	c.668G>A	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475827	0.84640	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.53423	0.62;0.62;0.62	5.72	5.72	0.89469	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.121135	0.36815	N	0.002387	T	0.42517	0.1206	L	0.46157	1.445	0.40481	D	0.98044	P	0.41420	0.749	P	0.45377	0.478	T	0.44345	-0.9334	10	0.72032	D	0.01	.	18.8574	0.92259	0.0:1.0:0.0:0.0	.	223	Q8NFP4	MDGA1_HUMAN	D	223	ENSP00000402584:G223D;ENSP00000297153:G223D;ENSP00000422042:G223D	ENSP00000297153:G223D	G	-	2	0	MDGA1	37730598	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	2.402000	0.44521	2.705000	0.92388	0.655000	0.94253	GGC		0.597	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3			4	120	0	0	0	1	0	4	120				
PDPN	10630	broad.mit.edu	37	1	13910449	13910449	+	Missense_Mutation	SNP	G	G	C			TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr1:13910449G>C	ENST00000294489.6	+	1	490	c.149G>C	c.(148-150)tGg>tCg	p.W50S	PDPN_ENST00000487038.1_5'Flank|PDPN_ENST00000376061.4_5'Flank|PDPN_ENST00000509009.1_5'Flank|PDPN_ENST00000475043.1_5'Flank|PDPN_ENST00000376057.4_Missense_Mutation_p.W50S|PDPN_ENST00000513143.1_5'Flank					podoplanin											endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CTGGGCCTGTGGCCGCGGTGC	0.657																																						ENST00000294489.6																			0				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(148-150)tGg>tCg		podoplanin							21.0	22.0	21.0					1																	13910449		2203	4300	6503	SO:0001583	missense	10630				cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane		g.chr1:13910449G>C	AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493			29602	protein-coding gene	gene with protein product	"""lung type I cell membrane associated glycoprotein"""	608863				10393083, 9651190	Standard	NM_006474		Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000294489.6:c.149G>C	1.37:g.13910449G>C	ENSP00000294489:p.Trp50Ser					PDPN_ENST00000376057.4_Missense_Mutation_p.W50S	p.W50S			Q86YL7	PDPN_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)	1	490	+	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	0						Missense_Mutation	SNP	ENST00000294489.6	37	c.149G>C	CCDS30602.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828271	0.32329	.	.	ENSG00000162493	ENST00000294489;ENST00000376057;ENST00000510906	T;T;T	0.41400	1.0;1.0;1.0	4.79	3.86	0.44501	.	1.685470	0.04267	N	0.341401	T	0.37865	0.1019	N	0.08118	0	0.23962	N	0.996333	P;P	0.49635	0.926;0.926	P;P	0.52481	0.7;0.7	T	0.42916	-0.9423	10	0.87932	D	0	.	8.2749	0.31866	0.1075:0.0:0.8925:0.0	.	50;50	Q86YL7-3;Q86YL7-4	.;.	S	50;50;41	ENSP00000294489:W50S;ENSP00000365225:W50S;ENSP00000426302:W41S	ENSP00000294489:W50S	W	+	2	0	PDPN	13783036	0.000000	0.05858	0.020000	0.16555	0.143000	0.21401	0.214000	0.17541	2.347000	0.79759	0.563000	0.77884	TGG		0.657	PDPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021783.2	NM_006474		7	11	0	0	0	1	0	7	11				
KIF20A	10112	broad.mit.edu	37	5	137518596	137518596	+	Missense_Mutation	SNP	G	G	A			TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr5:137518596G>A	ENST00000394894.3	+	7	975	c.749G>A	c.(748-750)cGg>cAg	p.R250Q	KIF20A_ENST00000508792.1_Missense_Mutation_p.R232Q	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	250	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATCGAAAGTCGGATAGGTACC	0.537																																						ENST00000394894.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(748-750)cGg>cAg		kinesin family member 20A							80.0	74.0	76.0					5																	137518596		2203	4300	6503	SO:0001583	missense	10112				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity	g.chr5:137518596G>A	AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"""Kinesins"""	9787	protein-coding gene	gene with protein product		605664	"""RAB6 interacting, kinesin-like (rabkinesin6)"""	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.749G>A	5.37:g.137518596G>A	ENSP00000378356:p.Arg250Gln					KIF20A_ENST00000508792.1_Missense_Mutation_p.R232Q	p.R250Q	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		7	975	+			250			Kinesin-motor.		B4DL79|D3DQB6	Missense_Mutation	SNP	ENST00000394894.3	37	c.749G>A	CCDS4199.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.278155	0.40294	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	T;T	0.70516	-0.45;-0.49	4.88	3.0	0.34707	Kinesin, motor domain (3);	0.175252	0.26824	N	0.022318	T	0.52125	0.1715	L	0.37697	1.125	0.50813	D	0.999896	P;B	0.34587	0.458;0.004	B;B	0.26770	0.073;0.012	T	0.48258	-0.9051	10	0.30078	T	0.28	-12.7674	7.2465	0.26125	0.2025:0.1334:0.6641:0.0	.	232;250	B4DL79;O95235	.;KI20A_HUMAN	Q	250;232	ENSP00000378356:R250Q;ENSP00000420880:R232Q	ENSP00000378356:R250Q	R	+	2	0	KIF20A	137546495	0.996000	0.38824	1.000000	0.80357	0.991000	0.79684	0.893000	0.28336	1.286000	0.44565	0.655000	0.94253	CGG		0.537	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	NM_005733		3	38	0	0	0	1	0	3	38				
RGS14	10636	broad.mit.edu	37	5	176798390	176798390	+	Missense_Mutation	SNP	G	G	A			TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr5:176798390G>A	ENST00000408923.3	+	13	1564	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H	RGS14_ENST00000506944.1_3'UTR	NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	459					cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCCCTGCCGCAGCCAGGTG	0.607																																					NSCLC(47;353 1896 28036)	ENST00000408923.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12						c.(1375-1377)cGc>cAc		regulator of G-protein signaling 14							77.0	92.0	87.0					5																	176798390		2036	4189	6225	SO:0001583	missense	10636				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity	g.chr5:176798390G>A	AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"""Regulators of G-protein signaling"""	9996	protein-coding gene	gene with protein product		602513	"""regulator of G-protein signalling 14"""				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.1376G>A	5.37:g.176798390G>A	ENSP00000386229:p.Arg459His					RGS14_ENST00000506944.1_3'UTR	p.R459H	NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1564	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	459					O43565|Q506M1|Q6ZWA4|Q8TD62	Missense_Mutation	SNP	ENST00000408923.3	37	c.1376G>A	CCDS43405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.63|15.63	2.890070|2.890070	0.52014|0.52014	.|.	.|.	ENSG00000169220|ENSG00000169220	ENST00000511890|ENST00000408923;ENST00000336477	.|T	.|0.38240	.|1.15	5.05|5.05	-7.32|-7.32	0.01436|0.01436	.|.	.|1.424160	.|0.03949	.|N	.|0.288202	T|T	0.16854|0.16854	0.0405|0.0405	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.12630	.|0.006;0.004;0.002	.|B;B;B	.|0.06405	.|0.002;0.001;0.001	T|T	0.12372|0.12372	-1.0550|-1.0550	5|10	.|0.17369	.|T	.|0.5	-1.0E-4|-1.0E-4	2.6882|2.6882	0.05113|0.05113	0.4748:0.0934:0.2429:0.1889|0.4748:0.0934:0.2429:0.1889	.|.	.|230;307;459	.|B3KUX0;O43566-5;O43566	.|.;.;RGS14_HUMAN	T|H	330|459;240	.|ENSP00000386229:R459H	.|ENSP00000336864:R240H	A|R	+|+	1|2	0|0	RGS14|RGS14	176730996|176730996	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.652000|0.652000	0.38707|0.38707	-1.276000|-1.276000	0.02815|0.02815	-1.622000|-1.622000	0.01560|0.01560	-0.781000|-0.781000	0.03364|0.03364	GCA|CGC		0.607	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372676.1	NM_006480		4	64	0	0	0	1	0	4	64				
FIG4	9896	broad.mit.edu	37	6	110036319	110036319	+	Silent	SNP	A	A	G			TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr6:110036319A>G	ENST00000230124.3	+	2	229	c.105A>G	c.(103-105)aaA>aaG	p.K35K	FIG4_ENST00000368941.1_5'Flank|FIG4_ENST00000441478.2_5'UTR	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	35					cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		CAGAAACGAAATATCGTGTCT	0.323																																						ENST00000230124.3																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32						c.(103-105)aaA>aaG		FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)							84.0	85.0	85.0					6																	110036319		2203	4300	6503	SO:0001819	synonymous_variant	9896				cell death	endosome membrane	protein binding	g.chr6:110036319A>G	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.105A>G	6.37:g.110036319A>G						FIG4_ENST00000441478.2_5'UTR	p.K35K	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	2	229	+		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)	35					Q53H49|Q5TCS6	Silent	SNP	ENST00000230124.3	37	c.105A>G	CCDS5078.1																																																																																				0.323	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		24	31	0	0	0	1	0	24	31				
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632																																						ENST00000361883.5																			11	Substitution - Missense(11)	p.I88T(11)	lung(7)|kidney(1)|prostate(1)|endometrium(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(262-264)aTc>aCc		keratin associated protein 1-5							26.0	30.0	28.0					17																	39183145		2054	4217	6271	SO:0001583	missense	83895					keratin filament		g.chr17:39183145A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.263T>C	17.37:g.39183145A>G	ENSP00000355302:p.Ile88Thr						p.I88T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	309	-		Breast(137;0.00043)	88			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.263T>C	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.877501	0.00061	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.25579	1.79	2.87	0.645	0.17782	.	.	.	.	.	T	0.03178	0.0093	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.05721	T	0.95	.	2.2484	0.04037	0.117:0.3609:0.3383:0.1838	.	88	Q9BYS1	KRA15_HUMAN	T	88;78	ENSP00000355302:I88T	ENSP00000355302:I88T	I	-	2	0	KRTAP1-5	36436671	0.730000	0.28100	0.005000	0.12908	0.023000	0.10783	0.636000	0.24644	-0.052000	0.13311	-0.215000	0.12644	ATC		0.632	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			3	48	0	0	0	1	0	3	48				
TCTEX1D4	343521	broad.mit.edu	37	1	45272252	45272252	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr1:45272252delC	ENST00000339355.2	-	1	95	c.89delG	c.(88-90)ggcfs	p.G30fs	BTBD19_ENST00000450269.1_5'Flank|TCTEX1D4_ENST00000372200.1_Frame_Shift_Del_p.G30fs|BTBD19_ENST00000453418.1_5'Flank|BTBD19_ENST00000409335.2_5'Flank			Q5JR98	TC1D4_HUMAN	Tctex1 domain containing 4	30						acrosomal vesicle (GO:0001669)|axoneme (GO:0005930)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)	protein phosphatase 1 binding (GO:0008157)			pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					GGGCAGGCAGCCTCGGGGCCG	0.731																																						ENST00000372200.1																			0				pancreas(1)	1						c.(88-90)gcfs		Tctex1 domain containing 4							5.0	5.0	5.0					1																	45272252		2131	4190	6321	SO:0001589	frameshift_variant	343521							g.chr1:45272252delC	BC092499	CCDS30699.1	1p34.1	2007-12-17				ENSG00000188396			32315	protein-coding gene	gene with protein product	"""novel Tctex-1 family domain-containing protein"""	611713				12477932	Standard	XM_006710614		Approved		uc001cmp.3	Q5JR98		ENST00000339355.2:c.89delG	1.37:g.45272252delC	ENSP00000341803:p.Gly30fs					TCTEX1D4_ENST00000339355.2_Frame_Shift_Del_p.G30fs	p.G30fs	NM_001013632.2	NP_001013654.1	Q5JR98	TC1D4_HUMAN			2	597	-	Acute lymphoblastic leukemia(166;0.155)		30						Frame_Shift_Del	DEL	ENST00000339355.2	37	c.89delG	CCDS30699.1																																																																																				0.731	TCTEX1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023733.1	NM_001013632		2	4						2	4	---	---	---	---
RP11-739N20.2	0	broad.mit.edu	37	1	204363978	204363979	+	RNA	INS	-	-	A			TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr1:204363978_204363979insA	ENST00000443515.1	+	0	146																											gatttgtttttcaaaaaaaaaa	0.302																																						ENST00000443515.1																			0																																																			0							g.chr1:204363978_204363979insA																													1.37:g.204363978_204363979insA														0	146	+									RNA	INS	ENST00000443515.1	37																																																																																						0.302	RP11-739N20.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000087972.1			2	4						2	4	---	---	---	---
TPBG	7162	broad.mit.edu	37	6	83075102	83075102	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr6:83075102delC	ENST00000369750.3	+	2	1041	c.424delC	c.(424-426)cccfs	p.P142fs	TPBG_ENST00000535040.1_Frame_Shift_Del_p.P142fs|TPBG_ENST00000543496.1_Frame_Shift_Del_p.P142fs			Q13641	TPBG_HUMAN	trophoblast glycoprotein	142					cell adhesion (GO:0007155)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		CGAGCATCTGCCCAGCCTGCG	0.736																																						ENST00000369750.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						c.(424-426)ccfs		trophoblast glycoprotein							35.0	38.0	37.0					6																	83075102		2203	4299	6502	SO:0001589	frameshift_variant	7162				cell adhesion	integral to plasma membrane		g.chr6:83075102delC	AJ012159	CCDS4995.1	6q14-q15	2008-07-29			ENSG00000146242	ENSG00000146242			12004	protein-coding gene	gene with protein product		190920				8132670	Standard	NM_006670		Approved	5T4-AG, 5T4	uc003pjo.3	Q13641	OTTHUMG00000015103	ENST00000369750.3:c.424delC	6.37:g.83075102delC	ENSP00000358765:p.Pro142fs					TPBG_ENST00000543496.1_Frame_Shift_Del_p.P142fs|TPBG_ENST00000535040.1_Frame_Shift_Del_p.P142fs	p.P142fs			Q13641	TPBG_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.107)	2	1041	+		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)	142					A8K555	Frame_Shift_Del	DEL	ENST00000369750.3	37	c.424delC	CCDS4995.1																																																																																				0.736	TPBG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041340.1			31	33						31	33	---	---	---	---
KCNK7	10089	broad.mit.edu	37	11	65363186	65363186	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr11:65363186delC	ENST00000340313.4	-	1	281	c.58delG	c.(58-60)gccfs	p.A20fs	KCNK7_ENST00000342202.4_Frame_Shift_Del_p.A20fs|KCNK7_ENST00000394216.2_Frame_Shift_Del_p.A20fs|KCNK7_ENST00000394217.2_Frame_Shift_Del_p.A20fs	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	20					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|liver(1)|lung(1)	3						AGCCCCAGGGCCAGCAAGTGG	0.682																																						ENST00000394216.2																			0				endometrium(1)|liver(1)|lung(1)	3						c.(58-60)ccfs		potassium channel, subfamily K, member 7							11.0	15.0	13.0					11																	65363186		2183	4286	6469	SO:0001589	frameshift_variant	10089					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:65363186delC	AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528	ENST00000340313.4:c.58delG	11.37:g.65363186delC	ENSP00000344820:p.Ala20fs					KCNK7_ENST00000394217.2_Frame_Shift_Del_p.A20fs|KCNK7_ENST00000342202.4_Frame_Shift_Del_p.A20fs|KCNK7_ENST00000340313.4_Frame_Shift_Del_p.A20fs	p.A20fs	NM_005714.1|NM_033455.1	NP_005705.1|NP_258416.1	Q9Y2U2	KCNK7_HUMAN			1	281	-			20					Q3SYI2|Q9Y2U3|Q9Y2U4	Frame_Shift_Del	DEL	ENST00000340313.4	37	c.58delG	CCDS31608.1																																																																																				0.682	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390206.1	NM_005714		2	4						2	4	---	---	---	---
